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Topic Review
GNPTAB Gene
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
  • 832
  • 22 Dec 2020
Topic Review
Hartsfield Syndrome
Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and a malformation of the hands and feet called ectrodactyly.
  • 832
  • 23 Dec 2020
Topic Review
CDKN1B Gene
cyclin dependent kinase inhibitor 1B
  • 832
  • 24 Dec 2020
Topic Review
FAH Gene
Fumarylacetoacetate hydrolase: The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase. 
  • 832
  • 25 Dec 2020
Topic Review
GJB1 Gene
Gap junction protein beta 1
  • 832
  • 25 Dec 2020
Topic Review
Hereditary Colorectal Cancer Syndromes
Colorectal cancer (CRC) is the third most commonly diagnosed cancer worldwide. Hereditary CRC syndromes account for approximately 5–10% of all CRC, with a lifetime risk of CRC that approaches 50–80% in the absence of endoscopic or surgical treatment. Hereditary CRC syndromes can be phenotypically divided into polyposis and non-polyposis syndrome, mainly according to the conditions of polyps. 
  • 832
  • 10 Feb 2023
Topic Review
PRPS1 Gene
phosphoribosyl pyrophosphate synthetase 1
  • 831
  • 22 Dec 2020
Topic Review
CDH1 Gene
cadherin 1
  • 831
  • 24 Dec 2020
Topic Review
PPT1 Gene
palmitoyl-protein thioesterase 1
  • 831
  • 25 Dec 2020
Topic Review
TSHB Gene
thyroid stimulating hormone beta
  • 830
  • 23 Dec 2020
Topic Review
Hyperprolinemia
Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II.
  • 830
  • 23 Dec 2020
Topic Review
Moyamoya Disease
Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them.
  • 830
  • 23 Dec 2020
Topic Review
Autoimmune Lymphoproliferative Syndrome
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).
  • 830
  • 24 Dec 2020
Topic Review
Giant Axonal Neuropathy
Giant axonal neuropathy is an inherited condition characterized by abnormally large and dysfunctional axons called giant axons.
  • 829
  • 23 Dec 2020
Topic Review
Treacher Collins Syndrome
Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face.
  • 829
  • 23 Dec 2020
Topic Review
Multiple Endocrine Neoplasia
Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.
  • 829
  • 23 Dec 2020
Topic Review
PTEN Gene
phosphatase and tensin homolog
  • 829
  • 23 Dec 2020
Topic Review
VPS13B Gene
Vacuolar protein sorting 13 homolog B.
  • 829
  • 24 Dec 2020
Topic Review
TBXT Gene
T-box transcription factor T: The TBXT gene provides instructions for making a protein called brachyury. 
  • 829
  • 24 Dec 2020
Topic Review
Pyruvate Carboxylase Deficiency
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.
  • 829
  • 24 Dec 2020
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